Results 51 to 60 of about 13,604 (137)

Assessing Access to Orthopaedic Care for Patients With Osteogenesis Imperfecta

Graduate Medical Education Research Journal
Background: Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth.
Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace   +6 more
doaj   +1 more source

Condylar Trabecular Bone Texture in Temporomandibular Disorders: A Quantitative Computed Tomography Analysis

Journal of Oral Rehabilitation, EarlyView.
Quantitative computed tomography texture analysis revealed differences in mandibular condylar trabecular bone among patients with temporomandibular disorders and asymptomatic controls. Distinct texture features were identified in the peri‐cystic bone of condyles with subchondral cysts, suggesting alterations in local trabecular bone microarchitecture ...
Elaine Dinardi Barioni, Jennifer Larissa Oliveira do Nascimento, Lana Ferreira Santos, Maria Aparecida Neves Jardini, Kaan Orhan, Sérgio Lucio Pereira de Castro Lopes, Andre Luiz Ferreira Costa   +6 more
wiley   +1 more source

Algorithm for Surgical Management in Patients in Treatment With Medication Associated With Osteonecrosis of the Jaws

Oral Surgery, EarlyView.
ABSTRACT Background Osteonecrosis of the jaws is associated with various drugs, including antiresorptives such as bisphosphonates and denosumab, as well as antiangiogenics. These drugs are used for the treatment of multiple diseases, notably osteoporosis, bone metastases, Paget's disease, osteogenesis imperfecta, malignant hypocalcaemia, among others ...
Rodríguez Naranjo Julia Alexandra, Gómez Hernández Kevin Andrew, Cabrera del Cid María Fernanda, Jerez Robalino James Philippe   +3 more
wiley   +1 more source

Polyglycine Strands Within a Collagen Triple Helix

Biopolymers, Volume 117, Issue 6, November 2026.
ABSTRACT The collagen triple helix is the most abundant protein structural motif in animals. It tolerates any amino acid in its Xaa and Yaa positions but demands glycine (Gly) at every third position, where the residue packs into the sterically forbidding core of the triple helix and donates the recurring interstrand N–H⋯OC hydrogen bond that stitches
Wasin Tiarawut, Gabriel Saenz, Jinyi Yang, Ronald T. Raines   +3 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Orphanet Journal of Rare Diseases
Background SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing,
L. Sangiorgi, M. Boarini, M. Mordenti, V. Wang, I. Westerheim, R. T. Skarberg, M. Cavaller-Bellaubi, James Clancy, R. Pinedo-Villanueva, E. J. V. Lente, M. Marchetti   +10 more
doaj   +1 more source

Osteogenesis imperfecta and pregnancy: a case report

Journal of Medical Case Reports, 2019
Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus.
Felix Chamunyonga, Kudzaishe Lloyd Masendeke, Bismark Mateveke   +2 more
doaj   +1 more source

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Педиатрическая фармакология, 2019
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes.
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov   +5 more
doaj   +1 more source

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human Genome Variation
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear.
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue   +8 more
doaj   +1 more source

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

RGO: Revista Gaúcha de Odontologia, 2020
Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis ...
Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA   +5 more
doaj   +1 more source